Investigation of a male child with possible XLMR based on Shevell et al12
| Obtain three generation pedigree and details of development of all |
| possibly affected individuals |
| Obtain a detailed clinical history of maternal health pre-pregnancy |
| Pregnancy history |
| Birth history and birth height, weight and head circumference |
| Developmental milestones and growth rates |
| Neonatal PKU and hypothyroidism |
| Educational history and IQ |
| Examination for dysmorphic features and neurological signs |
| Karyotype analysis (550 banded resolution) |
| Fragile X |
| Telomere screen |
| Brain MRI if abnormal neurological findings or head circumference |
| indicates microcephaly or macrocephaly |
| EEG to assist definition of epilepsy phenotype |
| Metabolic screen if clinically indicated. Consider urine and plasma |
| screen of creatine/creatinine ratio where indicated and possible. |
| Consider free T3 thyroid function tests if spastic paraplegin is present. |